New drug offers hope to patients with rare disease

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Patients with a rare disease that stunts their size get a dose of momentum – a new drug that’s growing promise and possibly more.

Tammy Coulter, Ava’s mother: “Every week we come to get her infusion …for two and a half years.”

It’s a strict routine seven-year-old Ava and her mom Tammy Coulter have stuck to – making the trip from their home in Huntsville, Alabama to Chicago’s Lurie Children’s Hospital, where Ava receives a novel drug to treat her rare disease – called Morquio syndrome.

Barbara Burton, Lurie Children’s geneticist: “It affects the bones and joints, causing very short stature and difficulty with the joints. It affects the ability to get around.”

Patients with Morquio are missing an enzyme that helps break down complex sugars – so it builds up in the bones and joints, causing damage to tissue structure. Ava’s had a cervical fusion to help stabilize bones in her neck and a knee surgery to straighten her limb. Soon, she’ll have hip surgery.

Tammy Coulter: “And we just prayed about a treatment, that one would come along. There was nothing to do other than anything surgical she might need.”

Until the drug trial started.

Tammy Coulter: “They said ‘Hey it’s a clinical trial now, there is a drug, and they’re starting this.’”

A few treats help Ava take her Lurie visits in stride. The tiny but resilient second-grader knows she’s part of something big.

This experiment seems to have worked. The drug replaces the missing enzyme in patients – and doctors and patients are noticing a difference.

Tammy Coulter: “I’ve noticed that she is faster. When she initially started she was using like a scooter to get around with her kindergarten class because she couldn’t quite keep up with them. And then before the year was over we ditched that. It was gone, she didn’t need it anymore. And so she’s faster, she’s grown some, and I think just a healthier look to her as well.”

Dr. Burton: “We saw many times that patients experienced increased energy. They took off, they had better ability to get around and just were a lot peppier on treatment.”

Geneticist Barbara Burton says doctors don’t know why patients have more energy and endurance – that’s something she and her team will try to determine in the years to come.

Dr. Burton: “It may partly be a result of changes in the airway. It may partly relate to changes in the heart.”

The drug was approved in February, which means it will now be widely available. For Ava, that means her trips to Lurie are winding down. She’ll be able to receive her infusions much closer to home.

Tammy Coulter: “You know through all of the trials that we’ve had, and everything that we’ve gone through, the blessings have just been overwhelming.”

Dr. Burton: “It’s a big deal, it’s exciting, and it was wonderful for us to have this opportunity to participate in the development of this drug.”

Doctors plan to use the drug as an early intervention in their youngest patients with the hope their growth will be impacted.